Canonical Allele Identifier: CA2393992

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 539743
• ClinVar RCV Id: RCV000649528 ; RCV001149696 ; RCV001149695 ; RCV001662706 ; RCV002294362
• dbSNP Id: rs13082063
• ExAC: 3:49161313 C / T
• gnomAD v2: 3-49161313-C-T
• gnomAD v3: 3-49123880-C-T
• gnomAD v4: 3-49123880-C-T
• COSMIC: COSM1046060
• MyVariant Identifiers: chr3:g.49161313C>T (hg19) ; chr3:g.49123880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49123880C>T , CM000665.2:g.49123880C>T	GRCh38
NC_000003.11:g.49161313C>T , CM000665.1:g.49161313C>T	GRCh37
NC_000003.10:g.49136317C>T	NCBI36
NG_008094.1:g.14287G>A
NG_054716.1:g.2059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.3645G>A MANE Select	ENSP00000307156.4:p.Ala1215=
ENST00000305544.8:c.3645G>A	ENSP00000307156.4:p.Ala1215=
ENST00000418109.5:c.3645G>A	ENSP00000388325.1:p.Ala1215=
ENST00000477225.1:n.76G>A
ENST00000480640.1:n.403G>A
NM_002292.3:c.3645G>A	NP_002283.3:p.Ala1215=
XM_005265127.3:c.3645G>A	XP_005265184.1:p.Ala1215=
XM_005265127.4:c.3645G>A	XP_005265184.1:p.Ala1215=
NM_002292.4:c.3645G>A MANE Select	NP_002283.3:p.Ala1215=